Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major manifestation. The disorder was documented in a multigenerational South African (SA) family with antecedents from Namaqualand, a region in the north-west of the country. Linkage analysis revealed a locus that includes the collagen type II gene, COL2A1.
To identify the pathogenic COL2A1 variant causing NHD in an SA family.
One affected male with a clear diagnosis of NHD was selected for whole-exome sequencing (WES) on the Ion Torrent Proton platform. A probe-based assay and direct cycle sequencing were used to confirm that the prioritised variant segregated with the phenotype in the NHD family and was not present in unrelated controls from the same population.
WES identified one heterozygous variant, c.2014G&amp;gt;T; p.(Gly672Cys), in the coding sequence of the COL2A1 gene. The variant segregated with NHD in 23 affected family members and was previously reported in a Caucasian male with Perthes disease-like presentation.
It is now possible to provide a molecular diagnosis of NHD before hip problems present. The large, clinically well-characterised NHD family is a valuable resource that could provide more insight into the mechanisms responsible for the variable expression observed in individuals with this variant.
It is now possible to provide a molecular diagnosis of NHD before hip problems present. The large, clinically well-characterised NHD family is a valuable resource that could provide more insight into the mechanisms responsible for the variable expression observed in individuals with this variant.COVID-19 was recognised as a global pandemic on 11 March 2020. https://www.selleckchem.com/products/ml198.html In South Africa (SA), a nationwide lockdown was implemented at midnight on 26 March to prepare for the predicted surge and slow the spread of the virus.
To compare the volume and type of presentations of trauma secondary to interpersonal violence and road traffic collisions (RTCs) during two 5-month periods, from February to June 2019 and 2020, in the emergency department (ED) of an academic tertiary hospital in Gauteng Province, SA. In 2020, February - June included the lockdown period.
An observational retrospective audit of the patient register at the Helen Joseph Hospital ED was conducted, comparing the number of trauma presentations secondary to interpersonal violence (assaults with gunshot wounds, general assaults including mob assaults, assaults with stab wounds) and RTC presentations between February and June 2019 and 2020.
A total of 4 300 trauma presentations secondary to interpersonal violence and RTCs were noted in the 5-month lly significant, but declines in the volume of trauma presentations secondary to interpersonal violence and in the volume of overall trauma presentations were not.Requests for computed tomography (CT) and magnetic resonance imaging (MRI) scans by doctors with different levels of experience have cost and risk implications globally. Evidence-based appropriateness criteria guide doctors to the suitable use of radiology imaging. There are few studies regarding appropriateness of CT requests in the South African (SA) context. Previous research in the Garden Route district of Western Cape Province, SA, evaluated the appropriateness of scans.
To review the appropriateness of CT and MRI scans done in a 6-year follow-up study at one facility.
This was a retrospective descriptive study. All CT and MRI scans performed during October 2018 at George Hospital were classified according to American College of Radiology guidelines as usually appropriate (UA), might be appropriate (MBA), or not appropriate (NA). Stratified analysis allowed simple statistics and some comparison with the previous study.
A total of 515 CT and MRI scans were included, of which 81.4% were UA, 7.4% MBA and 11.2% NA. Most scans were requested by medical officers (n=255), followed by consultants (n=126) and junior doctors (n=70). Medical officers made the majority of inappropriate requests. Second-year interns requested the lowest number of inappropriate scans, with registrars not requesting any inappropriate scans. Most of the inappropriate scans were requested after hours. Thirty-seven of the 123 (30.1%) after-hours scans were inappropriately requested compared with 21 of 392 (5.4%) scans during normal working hours, which were inappropriate.
Although the majority of scans were being ordered appropriately, pre-authorisation by experienced physicians and incorporation of guidelines would make requests more complete and possibly more appropriate, especially after hours.
Although the majority of scans were being ordered appropriately, pre-authorisation by experienced physicians and incorporation of guidelines would make requests more complete and possibly more appropriate, especially after hours.There is a high prevalence of substance use among youth in South Africa (SA), and adolescent girls and young women (AGYW) experience high rates of depression and anxiety. Substance use behaviours and mental health are associated with other public health problems among AGYW such as HIV and unintended pregnancy. Therefore, understanding the relationship between substance use and mental health is imperative to improve AGYW's health.
To examine the association between heavy drinking, marijuana, methamphetamine and methaqualone (Mandrax) use and depressive and anxiety symptoms among AGYW aged 16 - 19 years who have dropped out of school in Cape Town, SA.
Data for this report come from the baseline data of 500 participants of an ongoing cluster-randomised trial assessing the efficacy of a young woman-focused intervention to reduce substance use and HIV risk. After AGYW consented/assented to participate, they completed a urine drug screen and a baseline questionnaire.
Logistic and negative binomial regressions, controlling for clustering at the neighbourhood level, revealed that frequency of depressive symptoms was significantly and positively related to a positive drug screen for Mandrax (β=0.07; p=0.03). All other associations between the frequency of depressive symptoms and substance use were not statistically significant (ps&amp;gt;0.05). The associations between frequency of anxiety symptoms and substance use were not statistically significant (ps&amp;gt;0.05).
Our findings highlight the need to address substance use, especially Mandrax use and its associated risk, and depression in an integrated, youth-friendly setting.
Our findings highlight the need to address substance use, especially Mandrax use and its associated risk, and depression in an integrated, youth-friendly setting.